ClinGen Dosage Sensitivity Curation Page

P3H1

  • Curation Status: Complete

Location Information

Select assembly: (NC_000001.10) (NC_000001.11)

Haploinsufficiency phenotype comments:

Variants in LEPRE1 have been identified in individuals with osteogenesis imperfecta type VIII, an autosomal recessive condition.

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity